rs117246523 - SMU1P1 - KRT8P45

Magnitude 4.5 · 1 study on file

Reported associations

  • Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia. - Blood (2024) · Yang Z, Hu L, Zhen J, Gu Y, Liu Y, Huang S, Wei Y, Zheng H, Guo X, Chen GB, Yang Y, Xiong L, Wei F, Liu S · PubMed 38064665

    Platelet count reduction occurs throughout pregnancy, with 5% to 12% of pregnant women being diagnosed with gestational thrombocytopenia (GT), characterized by a more marked decrease in platelet count during pregnancy. However, the underlying biological mechanism behind these phenomena remains unclear. Here, we used sequencing data from noninvasive prenatal testing of 100 186 Chinese pregnant individuals and conducted, to our knowledge, the hitherto largest-scale genome-wide association studies on platelet counts during 5 periods of pregnancy (the first, second, and third trimesters, delivery, and the postpartum period) as well as 2 GT statuses (GT platelet count < 150 × 109/L and severe GT platelet count < 100 × 109/L). Our analysis revealed 138 genome-wide significant loci, expla


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • preconception thrombocytopenia risk with OB-GYN Moderate

    rs117246523 A-allele strongly associates with gestational thrombocytopenia, increasing risk during pregnancy

    mention at preconception visit if female and planning pregnancy

Screening

  • platelet count at first prenatal visit Moderate

    Early assessment establishes baseline and enables clinical monitoring for gestational thrombocytopenia